Search Results - "de Oliveira, Claudiner Pereira"
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TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil
Published in Genes (16-07-2024)“…Despite the high prevalence of pathogenic variants (PV) carriers in the South and Southeast regions of Brazil, germline genetic testing for hereditary breast…”
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Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations
Published in European journal of medical genetics (01-01-2018)“…The TBL1XR1 gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the…”
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Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review
Published in Molecular syndromology (01-07-2022)“…WAGR syndrome (Wilms' tumor, aniridia, genitourinary changes, and intellectual disability) is a contiguous gene deletion syndrome characterized by the joint…”
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HIV-1 subtypes and mutations associated to antiretroviral drug resistance in human isolates from Central Brazil
Published in Brazilian journal of microbiology (01-09-2004)“…The detection of polymorphisms associated to HIV-1 drug-resistance and genetic subtypes is important for the control and treatment of HIV-1 disease. Drug…”
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